Varaico: Literature-Extracted Genetic Variants

IDH1

4,356 papers

RefSeq Summary

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor...

Pfam Domains

Iso_dhaa 9–401UCSCIsocitrate/isopropylmalate dehydrogenase

Gene Aliases

HGNC Name

isocitrate dehydrogenase (NADP(+)) 1

HGNC Previous Names

isocitrate dehydrogenase 1 (NADP+), soluble; isocitrate dehydrogenase 1 (NADP+); isocitrate dehydrogenase (NADP(+)) 1, cytosolic

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005896.4

p.I215V

c.643A>G

Surrounding Variants

2 papers

NM_005896.4

p.I215F

c.643A>T

1 paper

NM_005896.4

p.T214S

c.641C>G

3 papers

NM_005896.4

p.L216V

c.646C>G

1 paper

NM_005896.4

p.L216M

c.646C>A

1 paper

NM_005896.4

p.T214S

c.640A>T

1 paper

NM_005896.4

p.T214A

c.640A>G

1 paper

NM_005896.4

p.T214insFs

c.640_641ins17

1 paper

NM_005896.4

p.L216P

c.647T>C

1 paper

NM_005896.4

p.N213K

c.639C>A

2 papers

NM_005896.4

p.N213delFs

c.638delT

1 paper

NM_005896.4

p.N213T

c.638A>C

1 paper

NM_005896.4

p.N213fs

c.637_638fs